SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 170; N. variants: 31
Source: BEFREE ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11643718
rs11643718
0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.070 1.000 7 2003 2019
dbSNP: rs745452033
rs745452033
0.925 0.160 16 56865465 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005